• Title/Summary/Keyword: Reproductive genetics

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Overexpression of Cyclooxygenase-1 Correlates with Poor Prognosis in Renal Cell Carcinoma

  • Yu, Zu-Hu;Zhang, Qiang;Wang, Ya-Dong;Chen, Jing;Jiang, Zhi-Mao;Shi, Min;Guo, Xin;Qin, Jie;Cui, Guang-Hui;Cai, Zhi-Ming;Gui, Yao-Ting;Lai, Yong-Qing
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.6
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    • pp.3729-3734
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    • 2013
  • The aim of this study was to evaluate expression of COX-1 in renal cell carcinoma (RCC) and its prognostic value. mRNA of COX-1 was detected in 42 paired RCC and adjacent normal tissues with quantitative realtime polymerase chain reaction (qRT-PCR). Expression of COX-1 was also evaluated in 196 RCC sections and 91 adjacent normal tissues with immunohistochemistry. Statistical analysis was performed to assess COX-1 expression in RCC and its prognostic significance. The results of qRT-PCR showed mRNA levels of COX-1 in RCC tissues to be significantly higher than that in adjacent normal tissues (p < 0.001). Immunohistochemical assays also revealed COX-1 to be overexpressed in RCC tissues (p < 0.001). Statistical analysis demonstrated high expression of COX-1 was correlated with tumour size (p = 0.002), pathological stage (p = 0.003), TNM stage (p = 0.003, 0.007, 0.027, respectively), and tumour recurrence (p < 0.001). Survival analysis indicated patients with high expression of COX-1 had shorter survival time (p < 0.001), and COX-1 was an independent predictor. This is the first study to reveal overexpression of COX-1 in RRC and point to use as a prognostic marker in affected patients.

The Effects of Estrogen Receptor Locus on Reproductive Tracts Components and Performance Traits in Large White×Meishan F2 Offspring

  • Li, Fenge;Lei, Minggang;Zheng, Rong;Zuo, Bo;Jiang, Siwen;Deng, Changyan;Xiong, Yuanzhu
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.9
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    • pp.1223-1226
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    • 2004
  • Previously candidate gene approach revealed estrogen receptor (ESR) locus was associated with increased litter size. In this study, PvuII polymorphisms of ESR gene was detected by PCR-RFLP, and ESR locus was evaluated for its association with reproductive tracts components in the Large $White{\times}Meishan$ ($LW{\times}M$) F2 offspring. Ninety seven gilts with reproductive tracts components records and 136 offspring with performance traits records were genotyped and the results were used to estimate allele substitution effects. The results showed that two alleles (A and B) were identified, and 121 bp fragments were observed for the AA genotype and 65 bp and 56 bp fragments for the BB genotype; the length of uterine body (LUB) of BB gilts were significantly shorter than AA gilts', the additive effect was -1.762 cm; the uterine weight (UW) of AB gilts were significantly lighter than AA gilts' with the additive effect -18.058 g; no significant associations of ESR alleles with ovulation rate (OR), length of uterine horn (LUH), length of uterine cervix (LUC), weight of two ovaries (OW), volume of uterine lumen (VUL), length of oviduct (LO) were observed. BB genotypes gilts need significantly less days to 100 kg ($D_{100kg}$) than AA genotypes (p<0.01), the additive effect was per copy of B allele. Allele B is also favorable for average daily gain (ADG), with additive effect 0.015 kg/d (p<0.05). There was no difference between genotypes for backfat thickness at the 13th rib (SF13), loin meat height (ELMH), and loin meat percentage was estimated (ELMP), individual birth weight (IBW) and teat number (TN).

Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization

  • Sills, E. Scott;Obregon-Tito, Alexandra J.;Gao, Harry;McWilliams, Thomas K.;Gordon, Anthony T.;Adams, Catharine A.;Slim, Rima
    • Clinical and Experimental Reproductive Medicine
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    • v.44 no.1
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    • pp.40-46
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    • 2017
  • Objective: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. Methods: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening. Findings in NLRP7 were recorded and embryo culture and biopsy data were tabulated as a function of parental origin for any identified ploidy error. Results: The patient was found to have a pathogenic variant in NLRP7 (c.2810+2T>G) in a homozygous state. Fifteen oocytes were retrieved and 10 embryos were available after fertilization via intracytoplasmic sperm injection. Developmental arrest was noted for all 10 embryos after 144 hours in culture, thus no transfer was possible. These non-viable embryos were evaluated by karyomapping and all were diploid biparental; two were euploid and eight had various aneuploidies all of maternal origin. Conclusion: This is the first report of early human embryo development from a patient with any NLRP7 mutation. The pathogenic variant identified here resulted in global developmental arrest at or before blastocyst stage. Standard IVF should therefore be discouraged for such patients, who instead need to consider oocyte (or embryo) donation with IVF as preferred clinical methods to treat infertility.

RALY RNA Binding Protein-like Reduced Expression is Associated with Poor Prognosis in Clear Cell Renal Cell Carcinoma

  • Cui, Zhi-Wen;Xia, Ye;Ye, Yi-Wang;Jiang, Zhi-Mao;Wang, Ya-Dong;Wu, Jian-Ting;Sun, Liang;Zhao, Jun;Fa, Ping-Ping;Sun, Xiao-Juan;Gui, Yao-Ting;Cai, Zhi-Ming
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3403-3408
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    • 2012
  • The molecular mechanisms involved in the progression of clear cell renal cell carcinomas (ccRCCs) are still unclear. The aim of this study was to analyse the relationships between expression of RALYL and clinical characteristics. In 41 paired samples of ccRCCs and adjacent normal tissues, we used real-time qPCR to evaluate the expression of RALYL mRNA. RALYL protein levels were determined in 146 samples of ccRCC and 37 adjacent normal tissues by immunohistochemistry. Statistical analysis was used to explore the relationships between expression of RALYL and the clinical characteristics (gender, age, tumor size, T stage, N stage, M stage, survival times and survival outcome) in ccRCC. In addition, these patients were follow-up period 64 months (range: 4~116months) to investigate the influence on prognosis. We found significantly differences between ccRCC tissues and normal tissues (p<0.001, paired-sample t test) in mRNA levels of RALYL. Immunohistochemistry analyses in 146 ccRCC samples and 37 adjacent normal tissues showed significantly lower RALYL protein levels in ccRCC samples (${\chi}^2$-test, p<0.001), inversely correlating with tumour size (p=0.024), T stage (0.005), N stage (p<0.001) as well as M stage (p=0.019), but not age (p=0.357) and gender (p=0.348). Kaplan-Meier survival analysis demonstrated that people with lower level of RALYL expression had a poorer survival rate than those with a higher level of RALYL expression, significantly different by the log-rank test (p=0.011). Cox regression analysis indicated that RALYL expression (p=0.039), N stage (p=0.008) and distant metastasis (p<0.001) were independent prognosis factors for the overall survival of ccRCC patients. We demonstrated that the expression of RALYL was significantly low in ccRCC and correlated with a poor prognosis in a large number of clinical samples. Our findings showed that RALYL may be a potential therapeutic target as well as a poor prognostic factor.

Upregulation of the RNF8 gene can predict the presence of sperm in azoospermic individuals

  • Nazari, Majid;Babakhanzadeh, Emad;Zarch, Mohsen Aghaei;Talebi, Mehrdad;Narimani, Nima;Dargahi, Mandana;Sabbaghian, Marjan;Ghasemi, Nasrin
    • Clinical and Experimental Reproductive Medicine
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    • v.47 no.1
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    • pp.61-67
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    • 2020
  • Objective: In this study, specimens from testicular biopsies of men with nonobstructive azoospermia (NOA) were used to investigate whether RNF8 gene could serve as a biomarker to predict the presence of sperm in these patients. Methods: Testicular biopsy specimens from 47 patients were classified according to the presence of sperm (positive vs. negative groups) and investigated for the expression of RNF8. The level of RNF8 gene expression in the testes was compared between these groups using reverse-transcription polymerase chain reaction. Results: The expression level of RNF8 was significantly higher in testicular samples from the positive group than in those from the negative group. Moreover, the area under the curve of RNF8 expression for the entire study population was 0.84, showing the discriminatory power of RNF8 expression in differentiating between the positive and negative groups of men with NOA. A receiver operating characteristic curve analysis showed that RNF8 expression had a sensitivity of 81% and a specificity of 84%, with a cutoff level of 1.76. Conclusion: This study points out a significant association between the expression of RNF8 and the presence of sperm in NOA patients, which suggests that quantified RNF8 expression in testicular biopsy samples may be a valuable biomarker for predicting the presence of spermatozoa in biopsy samples.